title: Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: first report from China.
abstract: We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. The lesions appeared over his fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed a total serum cholesterol level of 752.1 mg/dL; a triglyceride level of 96.6 mg/dL; a low-density lipoprotein cholesterol level of 661.3 mg/dL. Findings were consistent with homozygous familial hypercholesterolemia. To our knowledge, this is the first such case to be reported from China.
authors.forename: Xin
authors.initials: X
authors.lastname: Meng
authors.forename: Jie
authors.initials: J
authors.lastname: Lin
authors.forename: Xinxiao
authors.initials: X
authors.lastname: Gao
authors.forename: Jia
authors.initials: J
authors.lastname: Guo
authors.forename: Chen
authors.initials: C
authors.lastname: Xin
authors.affiliation: Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
mesh_terms: D001112:Arcus Senilis / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D002681:China; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D026502:LDL-Receptor Related Proteins / Q000097:blood / Q000235:genetics; D008297:Male; D009154:Mutation; D014973:Xanthomatosis / Q000175:diagnosis / Q000209:etiology*
chemical_list: D026502:LDL-Receptor Related Proteins; D004247:DNA